ClinVar Miner

List of variants reported as benign for childhood absence epilepsy by Invitae

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000811.3(GABRA6):c.951G>T (p.Ala317=) rs12522663 0.96771
NM_000811.3(GABRA6):c.*135C>T rs3219151 0.50903
NM_198904.4(GABRG2):c.588C>T (p.Asn196=) rs211037 0.31659
NM_000811.3(GABRA6):c.9G>A (p.Ser3=) rs13188991 0.18038
NM_000811.3(GABRA6):c.1210C>T (p.Pro404Ser) rs34907804 0.08568
NM_198904.4(GABRG2):c.315C>T (p.Asn105=) rs11135176 0.07676
NM_198904.4(GABRG2):c.354G>A (p.Ala118=) rs61735412 0.01699
NM_198904.4(GABRG2):c.328-20T>G rs74810777 0.01604
NM_000811.3(GABRA6):c.560C>T (p.Thr187Met) rs3811993 0.00892
NM_000811.3(GABRA6):c.594C>A (p.Val198=) rs143830239 0.00577
NM_198904.4(GABRG2):c.360G>A (p.Thr120=) rs77298346 0.00541
NM_198904.4(GABRG2):c.717A>G (p.Gln239=) rs78261481 0.00489
NM_000811.3(GABRA6):c.639A>G (p.Gln213=) rs34826485 0.00427
NM_000811.3(GABRA6):c.805G>A (p.Val269Ile) rs150866100 0.00227
NM_000811.3(GABRA6):c.60A>G (p.Lys20=) rs112717732 0.00096
NM_198904.4(GABRG2):c.798T>C (p.Phe266=) rs115126975 0.00067
NM_198904.4(GABRG2):c.259+20G>A rs200011382 0.00063
NM_198904.4(GABRG2):c.631+18T>A rs145582456 0.00054
NM_198904.4(GABRG2):c.922+20G>A rs11575991 0.00029
NM_198904.4(GABRG2):c.769+20A>C rs182866753 0.00024
NM_198904.4(GABRG2):c.107+12C>T rs369466385 0.00018
NM_198904.4(GABRG2):c.768C>T (p.Ser256=) rs201672465 0.00015
NM_198904.4(GABRG2):c.769+18A>G rs2422105 0.00007
NM_198904.4(GABRG2):c.409T>C (p.Leu137=) rs200828542 0.00006
NM_198904.4(GABRG2):c.582G>A (p.Leu194=) rs781498456 0.00002
NM_198904.4(GABRG2):c.1002G>A (p.Ala334=) rs371601817 0.00001
NM_198904.4(GABRG2):c.17T>C (p.Ile6Thr) rs759392289 0.00001
NM_000811.3(GABRA6):c.1005C>G (p.Ala335=) rs13184586
NM_000811.3(GABRA6):c.1344C>G (p.Val448=) rs4277944
NM_198904.4(GABRG2):c.840T>C (p.Tyr280=) rs558779533

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